Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

Fam Cancer. 2016 Apr;15(2):289-96. doi: 10.1007/s10689-015-9859-z.

Abstract

Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunological assays on peripheral blood mononuclear cells revealed an impaired immune response upon stimulation with Candida albicans, characterized by a defective production of the cytokine interleukin-17. Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk.

Keywords: Candida albicans; Gastric cancer; Interleukin-17; MYD88; Th17 response.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Candida albicans / immunology
  • Candida albicans / pathogenicity
  • Candidiasis / etiology*
  • Candidiasis / genetics
  • Candidiasis / immunology
  • Female
  • Helicobacter Infections / drug therapy
  • Homozygote
  • Humans
  • Interleukin-17 / metabolism
  • Myeloid Differentiation Factor 88 / genetics*
  • Myeloid Differentiation Factor 88 / immunology
  • Stomach Neoplasms / etiology*
  • Stomach Neoplasms / genetics
  • Stomach Neoplasms / microbiology

Substances

  • Interleukin-17
  • MYD88 protein, human
  • Myeloid Differentiation Factor 88